RT Journal Article
T1 Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism
A1 Yubero, Delia
A1 Brandi, Nuria
A1 Ormazabal, Aida
A1 Garcia-Cazorla, Angels
A1 Perez-Duenas, Belen
A1 Campistol, Jaime
A1 Ribes, Antonia
A1 Palau, Francesc
A1 Artuch, Rafael
A1 Armstrong, Judith
A1 Working Grp, 
K1 Exonic splicing enhancer
K1 Molecular diagnosis
K1 Mendelian disorders
K1 Hartnup disorder
K1 Gene
K1 Deficiency
K1 Mutation
K1 Diseases
K1 Acid
K1 Childhood
AB BackgroundNext-generation sequencing (NGS) technology has allowed the promotion of genetic diagnosis and are becoming increasingly inexpensive and faster. To evaluate the utility of NGS in the clinical field, a targeted genetic panel approach was designed for the diagnosis of a set of inborn errors of metabolism (IEM). The final aim of the study was to compare the findings for the diagnostic yield of NGS in patients who presented with consistent clinical and biochemical suspicion of IEM with those obtained for patients who did not have specific biomarkers.MethodsThe subjects studied (n = 146) were classified into two categories: Group 1 (n = 81), which consisted of patients with clinical and biochemical suspicion of IEM, and Group 2 (n = 65), which consisted of IEM cases with clinical suspicion and unspecific biomarkers. A total of 171 genes were analyzed using a customtargeted panel of genes followed by Sanger validation.ResultsGenetic diagnosis was achieved in 50% of patients (73/146). In addition, the diagnostic yield obtained for Group 1 was 78% (63/81), and this rate decreased to 15.4% (10/65) in Group 2 (X-2 = 76.171; p
PB Public library science
SN 1932-6203
YR 2016
FD 2016-05-31
LK https://hdl.handle.net/10668/25605
UL https://hdl.handle.net/10668/25605
LA en
DS RISalud
RD Apr 6, 2025